Skip to main content
Journal cover image

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

Publication ,  Journal Article
Krupp, DR; Soldano, KL; Garrett, ME; Cope, H; Ashley-Koch, AE; Gregory, SG
Published in: Birth Defects Res A Clin Mol Teratol
August 2014

BACKGROUND: Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally relevant pathways and model organisms has provided some success, alternative approaches are demanded. METHODS: Next generation sequencing platforms are facilitating the production of massive amounts of sequencing data, primarily from the protein coding regions of the genome, at a faster rate and cheaper cost than has previously been possible. These platforms are permitting the identification of variants (de novo, rare, and common) that are drivers of NYTD etiology, and the cost of the approach allows for the screening of increased numbers of affected and unaffected individuals from NTD families and in simplex cases. CONCLUSION: The next generation sequencing platforms represent a powerful tool in the armory of the genetics researcher to identify the causal genetic basis of NTDs.

Duke Scholars

Published In

Birth Defects Res A Clin Mol Teratol

DOI

EISSN

1542-0760

Publication Date

August 2014

Volume

100

Issue

8

Start / End Page

642 / 646

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Neural Tube Defects
  • Neural Tube
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Exome
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Krupp, D. R., Soldano, K. L., Garrett, M. E., Cope, H., Ashley-Koch, A. E., & Gregory, S. G. (2014). Missing genetic risk in neural tube defects: can exome sequencing yield an insight? Birth Defects Res A Clin Mol Teratol, 100(8), 642–646. https://doi.org/10.1002/bdra.23276
Krupp, Deidre R., Karen L. Soldano, Melanie E. Garrett, Heidi Cope, Allison E. Ashley-Koch, and Simon G. Gregory. “Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Birth Defects Res A Clin Mol Teratol 100, no. 8 (August 2014): 642–46. https://doi.org/10.1002/bdra.23276.
Krupp DR, Soldano KL, Garrett ME, Cope H, Ashley-Koch AE, Gregory SG. Missing genetic risk in neural tube defects: can exome sequencing yield an insight? Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):642–6.
Krupp, Deidre R., et al. “Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Birth Defects Res A Clin Mol Teratol, vol. 100, no. 8, Aug. 2014, pp. 642–46. Pubmed, doi:10.1002/bdra.23276.
Krupp DR, Soldano KL, Garrett ME, Cope H, Ashley-Koch AE, Gregory SG. Missing genetic risk in neural tube defects: can exome sequencing yield an insight? Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):642–646.
Journal cover image

Published In

Birth Defects Res A Clin Mol Teratol

DOI

EISSN

1542-0760

Publication Date

August 2014

Volume

100

Issue

8

Start / End Page

642 / 646

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Neural Tube Defects
  • Neural Tube
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Exome